Association of Variable Number of Tandem Repeats in the Coding
Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis Godfrey Essien Etokebe1*, Ljiljana Bulat-Kardum2, Ludvig Andre Munthe3, Sanja Balen4, Zlatko Dembic1 1 Molecular Genetics Laboratory Department of Oral Biology, Faculty of Dentistry, University of Oslo, Oslo, Norway, 2 Section of Pulmology, Department of Internal Medicine, Clinical Hospital Center, University of Rijeka, Rijeka, Croatia, 3 Dept of Immunology, OUS-Rikshospitalet, Oslo, Norway, 4 Clinical Institute for Transfusion Medicine, Universal Hospital Center Rijeka, School of Medicine, University of Rijeka, Rijeka, Croatia Abstract We analyzed for association between the Family with sequence similarity 46, member A (FAM46A) gene (located on chromosome 6q14.1), BCL2-Associated Athanogene 6 (BAG6) gene (located on chromosome 6p21.3) and tuberculosis in Croatian Caucasian. We genotyped the FAM46A rs11040 SNP, FAM46A VNTR and BAG6 rs3117582 polymorphisms in a case- control study with 257 tuberculosis patients and 493 healthy individuals in a Croatian Caucasian population. We found that genotype FAM46A 3/3 (three VNTR repeats homozygote) was associated with susceptibility to tuberculosis (p,0.0015, Pcorr.,0.029, Odds ratio = 2.42, 95% Confidence Interval = 1.34–4.3). This association suggests that the protein domain encoded by the VNTR might be important for the function of the FAM46A protein, which, in turn, could be relevant in developing tuberculosis. In addition, we found that FAM46A rs11040 SNP:FAM46A VNTR:BAG6 haplotype 132 (G-3-C) is associated with susceptibility to tuberculosis (p,0.012, pcorr.,0.024, Odds ratio 3.45, 95% Confidence Interval = 1.26–9.74).
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